Variant report

Variant	rs72879124
Chromosome Location	chr18:12093837-12093838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr18:12093649-12093921	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
2	MAX	chr18:12093514-12094108	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
3	E2F6	chr18:12093531-12093884	K562	blood:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
4	RAD21	chr18:12093477-12093841	H1-hESC	embryonic stem cell:	n/a	chr18:12093702-12093714 chr18:12093736-12093750 chr18:12093737-12093756 chr18:12093738-12093752 chr18:12093599-12093613
5	MAX	chr18:12093702-12093890	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750
6	E2F6	chr18:12093521-12093989	H1-hESC	embryonic stem cell:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
7	MAX	chr18:12093541-12094002	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
8	MYC	chr18:12093723-12093917	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750
9	E2F6	chr18:12093532-12094112	H1-hESC	embryonic stem cell:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
10	MAX	chr18:12093462-12093981	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
11	MAX	chr18:12093588-12093918	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
12	MAX	chr18:12093712-12093909	K562	blood:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093741-12093750

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12093809-12093859	U87	brain:	n/a
2	chr18:12093809-12093859	AG10803	skin:	n/a
3	chr18:12093809-12093859	H1-hESC	embryonic stem cell:	embryo
4	chr18:12093809-12093859	A549	lung:	n/a
5	chr18:12093809-12093859	HMEC	breast:	n/a
6	chr18:12093809-12093859	NH-A	brain:	n/a
7	chr18:12093809-12093859	AG09309	skin:	n/a
8	chr18:12093809-12093859	AG09319	gingival:	n/a
9	chr18:12093809-12093859	SAEC	small airway:	n/a
10	chr18:12093809-12093859	SKMC	muscle:	n/a
11	chr18:12093809-12093859	IMR90	lung:	fetal
12	chr18:12093809-12093859	HL-60	blood:	n/a
13	chr18:12093809-12093859	ovcar-3	ovarian:	n/a
14	chr18:12093809-12093859	HEEpiC	esophagus:	n/a
15	chr18:12093809-12093859	AG04450	lung:	fetal
16	chr18:12093809-12093859	SK-N-MC	brain:	n/a
17	chr18:12093809-12093859	HPAEpiC	pulmonary alveolar:	n/a
18	chr18:12093809-12093859	AoSMC	blood vessel:	n/a
19	chr18:12093809-12093859	HRPEpiC	eye:	n/a
20	chr18:12093809-12093859	HEK293	kidney:	embryo
21	chr18:12093809-12093859	T-47D	breast:	n/a
22	chr18:12093809-12093859	NHBE	bronchial:	n/a
23	chr18:12093809-12093859	GM12891	blood:	n/a
24	chr18:12093809-12093859	PANC-1	pancreas:	n/a
25	chr18:12093809-12093859	PFSK-1	brain:	n/a
26	chr18:12093809-12093859	GM12878	blood:	n/a
27	chr18:12093809-12093859	BE2_C	brain:	n/a
28	chr18:12093809-12093859	HAEpiC	amniotic membrane:	n/a
29	chr18:12093809-12093859	HCT-116	colon:	n/a
30	chr18:12093809-12093859	Hela-S3	cervix:	n/a
31	chr18:12093809-12093859	GM06990	blood:	n/a
32	chr18:12093809-12093859	HRCEpiC	kidney:	n/a
33	chr18:12093809-12093859	Jurkat	blood:	n/a
34	chr18:12093809-12093859	ProgFib	skin:	n/a
35	chr18:12093809-12093859	GM19239	blood:	n/a
36	chr18:12093809-12093859	ECC-1	luminal epithelium:	n/a
37	chr18:12093809-12093859	HCPEpiC	choroid plexus:	n/a
38	chr18:12093809-12093859	SK-N-SH_RA	brain:	n/a
39	chr18:12093809-12093859	HepG2	liver:	n/a
40	chr18:12093809-12093859	NHDF-neo	bronchial:	n/a
41	chr18:12093809-12093859	BJ	skin:	n/a
42	chr18:12093809-12093859	PrEC	prostate:	n/a
43	chr18:12093809-12093859	GM12892	blood:	n/a
44	chr18:12093809-12093859	HCM	heart:	n/a
45	chr18:12093809-12093859	LNCaP	prostate:	n/a
46	chr18:12093809-12093859	AG04449	skin:	fetal
47	chr18:12093809-12093859	MCF10A-Er-Src	breast:	n/a
48	chr18:12093809-12093859	RPTEC	kidney:	n/a
49	chr18:12093809-12093859	HUVEC	blood vessel:	n/a
50	chr18:12093809-12093859	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:

Variant related genes	Relation type
RNU6-324P	TF binding region
ENSG00000267478	TF binding region
ANKRD62	TF binding region
ENSG00000267478	CpG island
ANKRD62	CpG island
RNU6-324P	CpG island
ENSG00000200827	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11874561	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11875015	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875591	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11876891	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954117	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12959671	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12960683	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12963390	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381106	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594826	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34013399	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34045099	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34071448	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34652396	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34774742	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530473	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35626710	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35640729	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35732188	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4797619	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4797621	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57698452	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66499837	0.81[ASN][1000 genomes]
rs8084767	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8086727	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8087542	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8093087	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
13	nsv961151	chr18:12082154-12099861	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv909398	chr18:12083552-12121294	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv909399	chr18:12083552-12141372	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3407183	chr18:12093377-12096125	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3343386	chr18:12093552-12095950	Active TSS Genic enhancers ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
2	chr18:12091200-12094000	Enhancers	Esophagus	oesophagus
3	chr18:12093000-12094200	Enhancers	Placenta	Placenta
4	chr18:12093800-12094000	Genic enhancers	Pancreas	Pancrea
5	chr18:12093800-12094200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12093800-12094200	ZNF genes & repeats	Spleen	Spleen

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